Now showing items 7-26 of 33

• Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer ﻿

(Elsevier, 2015-05-09)
Background Citizen science, scientific research conducted by non-specialists, has the potential to facilitate biomedical research using available large-scale data, however validating the results is challenging. The Cell ...
• Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation ﻿

(NPG, 2014-09-23)
GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine-mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the “iCOGS” genotyping ...
• Evidence that the 5p12 variant rs10941679 confers susceptibility to estrogen receptor positive breast cancer through FGF10 and MRPS30 regulation ﻿

(Elsevier (Cell Press), 2016)
Genome-wide association studies (GWAS) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine-mapping of this locus using data from 104,660 subjects from 50 ...
• Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 ﻿

(Cell/Elsevier, 18/12/2014)
Genome Wide Association Studies (GWAS) revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analysed 909 ...
• Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. ﻿

(2015-12-18)
• Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 ﻿

(Elsevier, 2014-12-18)
Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed ...
• Functional Mechanisms Underlying Pleiotropic Risk Alleles at the 19p13.1 Breast-Ovarian Cancer Susceptibility Locus ﻿

(Nature Publishing Group, 2016)
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. We analyzed 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identified ...
• Genetic modifiers of CHEK2*1100delC associated breast cancer risk ﻿

(Nature Publishing Group, 2016)
Purpose CHEK2*1100delC is a founder variant in European populations conferring a 2-3 fold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC ...
• Genetic variation in the immunosuppression pathway genes and breast cancer: a pooled analysis of 42,510 cases and 40,577 controls from the Breast ﻿

(Springer, 2015-11-30)
Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be implicated in ...
• Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent ﻿

(Public Library of Science, 2016-08-23)
$\textbf{Background}$ Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal ...
• Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. ﻿

(NPG, 2015-03-09)
Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new ...
• Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types ﻿

(American Association for Cancer Research, 2016-07-17)
Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest ...
• High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium ﻿

(Wiley, 2016-04-06)
Automated methods are needed to facilitate high-throughput and reproducible scoring of Ki67 and other markers in breast cancer tissue microarrays (TMAs) in large-scale studies. To address this need, we developed an automated ...
• Identification and characterisation of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk ﻿

(Oxford University Press, 2014-08-28)
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility we carried out dense genotyping of this region ...
• Identification of four novel susceptibility loci for estrogen receptor negative breast cancer ﻿

(Nature Publishing Group, 2016)
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome wide significant associations (P<5x10-8) with estrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer ...
• Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer ﻿

(Nature Publishing Group, 2016-04-27)
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10$^{−8}$) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated ...
• Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus ﻿

(BioMed Central, 2016)
Background Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method We performed a ...
• Identification of Novel Genetic Markers of Breast Cancer Survival ﻿

(Oxford Journals, 2015-04-18)
Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with ...
• An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression ﻿

(Oxford University Press, 2016-07-11)
Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify ...
• No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing ﻿

(BMJ Group, 2016-02-26)
Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and ...